Submissions for variant NM_014141.6(CNTNAP2):c.1777+10A>G

gnomAD frequency: 0.20355  dbSNP: rs2286127

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081590	SCV000113521	benign	not specified	2012-08-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081590	SCV000312065	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000286532	SCV000467251	benign	Cortical dysplasia-focal epilepsy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334280	SCV000467252	benign	Pitt-Hopkins-like syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000286532	SCV000677258	benign	Cortical dysplasia-focal epilepsy syndrome	2017-04-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000286532	SCV001717587	benign	Cortical dysplasia-focal epilepsy syndrome	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000286532	SCV001821537	benign	Cortical dysplasia-focal epilepsy syndrome	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001711247	SCV001945364	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711247	SCV005272779	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000081590	SCV000150756	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081590	SCV001742189	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081590	SCV001928564	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081590	SCV001973205	benign	not specified		no assertion criteria provided	clinical testing